Variant report

Variant	rs532306838
Chromosome Location	chr8:48611490-48611491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48607821..48609433-chr8:48611384..48613361,2	MCF-7	breast:
2	chr8:48611140..48612961-chr8:48649084..48651075,2	MCF-7	breast:
3	chr8:48171946..48174429-chr8:48608651..48611565,2	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3369170	chr8:48611411-48612001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
3	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
5	chr8:48590600-48625200	Weak transcription	HepG2	liver
6	chr8:48593000-48612800	Weak transcription	Spleen	Spleen
7	chr8:48593200-48612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
9	chr8:48593600-48612800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:48593600-48613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:48597200-48614200	Weak transcription	Hela-S3	cervix
13	chr8:48597200-48647200	Weak transcription	NHEK	skin
14	chr8:48597200-48647400	Weak transcription	HMEC	breast
15	chr8:48597400-48614600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:48597800-48612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:48599200-48626600	Weak transcription	Fetal Kidney	kidney
18	chr8:48600000-48612600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:48600400-48612600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:48600400-48612600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:48600400-48612800	Weak transcription	Dnd41	blood
22	chr8:48600600-48615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:48600800-48612800	Weak transcription	Fetal Intestine Large	intestine
24	chr8:48600800-48614400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:48601800-48613000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:48602400-48612800	Weak transcription	Lung	lung
27	chr8:48602400-48616400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:48602600-48612800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:48603000-48614200	Weak transcription	Primary T cells from cord blood	blood
31	chr8:48603400-48612600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:48603400-48614800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:48604000-48613000	Weak transcription	Fetal Brain Female	brain
34	chr8:48604200-48615000	Weak transcription	Colonic Mucosa	Colon
35	chr8:48604400-48612800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:48604400-48615000	Weak transcription	Pancreas	Pancrea
37	chr8:48604400-48619000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
39	chr8:48604600-48614800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:48604600-48615200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:48605000-48614400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:48605000-48614800	Weak transcription	Liver	Liver
43	chr8:48605000-48625400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:48605200-48612800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:48605600-48612800	Weak transcription	Gastric	stomach
46	chr8:48606400-48624400	Weak transcription	Psoas Muscle	Psoas
47	chr8:48606600-48613000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:48606600-48615200	Weak transcription	Right Ventricle	heart
49	chr8:48606600-48624000	Weak transcription	Right Atrium	heart
50	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart

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